focal segmental glomerulosclerosis and neurodevelopmental syndrome
A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.
Also known as: FSGSNEDS.
Category: General
Symptoms associated with focal segmental glomerulosclerosis and neurodevelopmental syndrome
The following symptoms have been associated with focal segmental glomerulosclerosis and neurodevelopmental syndrome in medical literature. Not everyone experiences the same symptoms.
Atypical absence seizure
An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption...
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Bilateral tonic-clonic seizure with focal onset
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral t...
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
Head tremor
An unintentional, oscillating to-and-fro muscle movement affecting head movement....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Tests used to investigate focal segmental glomerulosclerosis and neurodevelopmental syndrome
Healthcare providers may order these tests when evaluating focal segmental glomerulosclerosis and neurodevelopmental syndrome. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with focal segmental glomerulosclerosis and neurodevelopmental syndrome, which is why a clinical evaluation is important.
Lafora disease
Lafora disease is a medical condition that may be associated with various symptoms and signs....
Pitt-Hopkins like syndrome 1
Pitt-Hopkins like syndrome 1 is a medical condition that may be associated with various symptoms and signs....
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
lissencephaly 10
lissencephaly 10 is a medical condition that may be associated with various symptoms and signs....
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities is a m...
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of d...
Frequently Asked Questions
What is focal segmental glomerulosclerosis and neurodevelopmental syndrome?
focal segmental glomerulosclerosis and neurodevelopmental syndrome is a health condition described in medical literature. A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.
What are the symptoms of focal segmental glomerulosclerosis and neurodevelopmental syndrome?
focal segmental glomerulosclerosis and neurodevelopmental syndrome is associated with 9 symptoms in the medical literature we index, including Atypical absence seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Chronic constipation, Deeply set eye, Focal impaired awareness seizure. Symptoms vary widely between individuals.
How is focal segmental glomerulosclerosis and neurodevelopmental syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with focal segmental glomerulosclerosis and neurodevelopmental syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have focal segmental glomerulosclerosis and neurodevelopmental syndrome, please discuss your symptoms with a qualified healthcare provider.